Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta
โ Scribed by S Mirandola; PF Pignatti; M Mottes
- Book ID
- 115638399
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 89 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0890-8508
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๐ SIMILAR VOLUMES
The molecular defect responsible for a case of mild osteogenesis imperfecta (OI) with repeated femoral fractures was investigated. The proband and his mother, who presented minor OI signs but no bone fractures, were shown to produce normal and abnormal type-I procollagen molecules in their dermal fi
We have determined that a man, ascertained because he fathered a child with lethal osteogenesis imperfecta (01) with each of two partners, is mosaic in both his germline and somatic tissues for a mutation in the COLlA2 gene which encodes the proa2(I) chain of type I procollagen. His dermal fibroblas
A substitution of arginine for glycine at amino acid position 154 of the al(1) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and IIUIV osteogenesis imperfecta, but appears to be milder than that of the previously describ